Absent pulmonary valve with intact ventricular septum and patent ductus arteriosus: A specific cardiac phenotype associated with deletion 18q syndrome

Versacci, Paolo; Digilio, María Cristina; Sauer, Ursula; Dallapiccola, Bruno; Marino, Bruno

doi:10.1002/ajmg.a.30916

Cited by 25 publications

(16 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In the present study, only 1 patient had tricuspid atresia, an intact ventricular septum, and patent ductus arteriosus. These malformations could be related to a primary defect in the development of the pulmonary valve, with hemodynamic changes leading to dilation of the PAs and an unusual course of ductus arteriosus [15]; i.e., a cardiac phenotype associated with deletion 18q syndrome [16]. However, APVS with a ventricular septal defect but without patent ductus arteriosus may be associated with interstitial deletion of chromosome 22 [17].…”

Section: Discussionmentioning

confidence: 99%

Echocardiography in the diagnosis of patients with absent pulmonary valve syndrome: a review study of 12 years

Pang

Lin

et al. 2015

Int J Cardiovasc Imaging

View full text Add to dashboard Cite

Absent pulmonary valve syndrome (APVS) is a rare congenital heart disease that is easily misdiagnosed as tetralogy of Fallot (TOF). We herein discuss the echocardiographic features of APVS, compare its two subtypes, and clarify some differences between APVS and TOF. From July 1998 to October 2011, 31 patients diagnosed with APVS at Fuwai Hospital underwent echocardiography, computed tomography, or cardiac angiography. APVS was clinically categorized as either infant-type or child-type. We compared the echocardiographic similarities and differences between APVS and TOF and between the two subtypes of APVS. Although enlargement or aneurysmal dilatation was present in the main pulmonary artery (PA) and its branch in most patients, pulmonary dysplasia or even an absent left PA was found in a few patients. Four important echocardiographic features of APVS useful for distinguishing this syndrome from TOF were (1) absence of the pulmonary valve or presence of pulmonary valve dysplasia, (2) concurrent stenosis and regurgitation at the pulmonary annulus, (3) significant aneurysmal dilatation in the areas of the PAs, and (4) increased rather than decreased PA pressure. 10 patients had infant-type APVS and 21 had child-type APVS. Compared with child-type APVS, infant-type APVS was usually characterized by a lower oxygen saturation, more dilated main PA and right PA, lower aorta-PA ratio, higher diastolic PA pressure, and lower incidence of an absent left PA. Echocardiography is important for diagnosing APVS and distinguishing it from TOF. There are minimal differences in the echocardiographic features between infant-type and child-type APVS.

show abstract

Section: Discussionmentioning

confidence: 99%

Echocardiography in the diagnosis of patients with absent pulmonary valve syndrome: a review study of 12 years

Pang

Lin

et al. 2015

Int J Cardiovasc Imaging

View full text Add to dashboard Cite

show abstract

“…In addition, patients with proximal 18q (q12–q21.1) deletions sometimes have facial features of deep‐set eyes with ptosis, epicanthic folds, and high or prominent forehead [Buysse et al, ] in common, although many of these features are not seen in infancy. Heart abnormalities have been reported in some patients with large distal deletions of 18q [Cody et al, ; Versacci et al, ].…”

Section: Discussionmentioning

confidence: 99%

First report of a de novo 18q11.2 microdeletion including GATA6 associated with complex congenital heart disease and renal abnormalities

Bui

Dorrani

Wong

et al. 2013

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Deletions of the long arm of chromosome 18 have been previously reported in many patients. Most cases involve the more distal regions of the long arm (18q21.1->qter). However, proximal interstitial deletions involving 18q11.2 are extremely rare. Here we report on a 14-month-old female with a 4.7 Mb (19,667,062-24,401,876 hg19) de novo interstitial deletion within chromosomal band 18q11.2, which includes GATA6 and 24 other RefSeq genes. The clinical features of our patient include complex congenital heart defects, a double outlet right ventricle, a subaortic ventricular septal defect, D-malposed great arteries, an atrial septal defect, a dysplastic aortic valve and patent ductus arteriosus. In addition, she had renal anomalies-a duplicated collecting system on the left and mild right hydronephrosis. These heart and renal defects are not reported in other patients with 18q proximal interstitial deletions. Heterozygous point mutations in GATA6, encoding for a zinc finger transcription factor, have been shown to cause congenital heart defects. Given the well-established biological role of GATA6 in cardiac development, a deletion of GATA6 is very likely responsible for our patient's complex congenital heart defects. This is the smallest and most proximal 18q11.2 deletion involving GATA6 that is associated with complex congenital heart disease and renal anomalies.

show abstract

“…Aortic root dilation leading to aortic dissection has been associated with numerous connective tissue disorders such as Marfan syndrome (fibrillin mutations), Ehlers–Danlos syndrome (collagen mutations) and Loeys–Dietz syndrome (TGF‐β receptor mutation) [Murdoch et al, 1972; Wenstrup et al, 2002; Loeys et al, 2006]. Other patients at risk include those with valvular abnormalities such as bicuspid aortic valve (BAV) and various genetic syndromes such as Turner syndrome, 18q deletion syndrome, and fragile X syndrome [Crabbe et al, 1993; Nistri et al, 1999; Versacci et al, 2005; Carlson and Silberach, 2007]. In addition to valvular abnormalities and genetic syndromes, adult onset diseases, such as hypertension, are additional risk factors for aortic root dilation [Larson and Edwards, 1984].…”

Section: Introductionmentioning

confidence: 99%

Aortic root dilation in patients with 22q11.2 deletion syndrome

John

McDonald‐McGinn

Zackai

et al. 2009

American J of Med Genetics Pt A

View full text Add to dashboard Cite

The 22q11.2 deletion syndrome is characterized by a highly variable phenotype including a range of cardiac malformations. The most common cardiovascular features include a subset of conotruncal defects, perimembranous ventricular septal defects and aortic arch anomalies. This report describes a series of patients with 22q11.2 deletion syndrome with the novel cardiac finding of mild aortic root dilation. A chart review was performed on 93 patients with documented 22q11.2 deletion without significant congenital heart disease to determine the number of patients with aortic root dilation. Patients ranged in age from 1 to 13 years of age. Of these 93 patients, 10 patients were found to have aortic root dilation on a screening echocardiogram. Seven of these patients did not have any additional risk factors while three patients had a bicuspid aortic valve (BAV). Four of 10 patients had additional minor cardiac anomalies including repaired ventricular septal defect (1), patent ductus arteriosus(1), arch anomalies (1), and left pulmonary artery stenosis (1). Three patients had isolated cases of aortic root dilation. Interestingly, several of these patients did not have aortic root dilation on their initial echocardiograms. The purpose of this study is to draw attention to a novel cardiac finding in patients with 22q11.2 deletion that may be of clinical importance. Further long-term study is warranted to assess the need for echocardiographic screening in the 22q11.2 deleted population for aortic root dilation into adolescence and adulthood.

show abstract

Absent pulmonary valve with intact ventricular septum and patent ductus arteriosus: A specific cardiac phenotype associated with deletion 18q syndrome

Cited by 25 publications

References 9 publications

Echocardiography in the diagnosis of patients with absent pulmonary valve syndrome: a review study of 12 years

Echocardiography in the diagnosis of patients with absent pulmonary valve syndrome: a review study of 12 years

First report of a de novo 18q11.2 microdeletion including GATA6 associated with complex congenital heart disease and renal abnormalities

Aortic root dilation in patients with 22q11.2 deletion syndrome

Contact Info

Product

Resources

About